Handbook of Genetic Counseling/Chorionic Villus Sampling (CVS)
Chorionic Villus Sampling (CVS)
Introduction
edit- Discuss the reason for referral.
- Elicit prior knowledge about CVS.
- Elicit knowledge about AMA or other indications for session.
- Assess concerns and set goals for the session.
- Provide overview of topics for counseling session.
Client & Partner Information
edit- Discuss why it's important to get pregnancy, personal, and family history.
- Go over pregnancy history:
- G?P?
- LMP? EDC?
- Infertility?
- Exposures?
- Medical complications?
- How has the pregnancy been going?
- Personal background:
- Occupation?
- Religion?
- Ethnicity?
- Chronic illness?
- Partner exposure?
Elicit Family History
edit- Construct pedigree:
- Abnormal # miscarriages, stillbirths, infant deaths?
- Previous children with chromosome abnormality, NTD, Down syndrome, birth defects, mental retardation?
- Consanguinity?
- Other concerns/risk factors?
What is AMA?
edit- Woman is age 35 & above at expected date of delivery.
- As maternal age increases, risks of birth defects increase.
- Women do not make new eggs like males make sperm.
- They are born will all the eggs they will have in their life and these eggs mature with age.
- There are procedures that can be done to assess the risk, but there are also risks associated with the procedures.
- The age of 35 is the "magic" number because this is when the risk of the procedure is justified.
- The background risk for major birth defects for women of all ages is 3-5%.
Explain Chromosome Abnormalities
edit- Explain cells, chromosome, and DNA
- Show karyotypes
- Explain nondisjunction
- Show abnormal karyotypes (trisomy 13, 18, 21, sex chromosome anomalies)
- Give a general description of the clinical features and prognoses.
- Trisomy 18 & 13 are most severe with most affected dying before the age of 1 year
- Trisomy 21 is more mild; characteristic physical features and mild to moderate MR
- Turner and Kleinfelter's syndromes are sex chromosome anomalies. Also usually mild.
Quote Risks
edit- Show charts to figure risk of chromosome abnormalities.
- Give age-specific risks:
- Age at CVS: ____________
- Down syndrome: 1 in _______ ( %)
- Any CA: 1 in ________ ( %)
Discuss the option of CVS
edit- What is it?
- CVS is short for chorionic villus sampling
- The chorionic villi are wisps of fetal tissue or finger-like projections that attach the pregnancy sac to the uterine wall
- CVS is the technique in which this sample of placental tissue is obtained
- The technique has been around for approximately 15 years although methods have changed over time
- It is unique because it is used to diagnose certain birth defects in the 1st trimester of pregnancy rather than later in the pregnancy like amniocentesis
- It is usually performed at 10-12 weeks gestation
- What can it tell me?
- CVS can detect certain abnormalities in the fetus
- General chromosome abnormalities
- Specific genetic disorders that have been previously identified
- It can determine the sex of the baby.
- CVS can detect certain abnormalities in the fetus
- What can it NOT tell me?
- CVS cannot detect neural tube defects such as spina bifida
- For this reason, it may be useful to measure the amount of AFP in the maternal serum at 15-18 weeks gestation
- Also, follow-up with US at 18-20 weeks is recommended
- It cannot detect all birth defects or mental retardation
- For example, congenital heart defects, cleft lip & palate cannot be seen.
- Also the severity of the defect cannot be known from CVS
- CVS cannot detect neural tube defects such as spina bifida
- Exactly what does the procedure involve?
- Show figures of CVS
- Transcervical CVS:
- Done at 10-12 weeks gestation
- A speculum is inserted and the vagina and cervix are cleaned with betadeine
- Some physicians apply a tenaculum to the lip of the cervix which can be painful
- Using US to guide, a thin tube is guided into the placenta
- Gentle suction is applied to the tube to remove the villi
- This method is easiest to perform when the placenta is posterior and close to the cervix
- A larger sample is taken as compared to transvaginal CVS
- Discomfort is often minimal, perhaps similar to a pap smear
- Post-procedure bleeding occurs in up to 10% of patients
- Transabdominal CVS:
- Done at 10 weeks gestation or later
- The abdomen is cleansed with betadeine
- A local anesthetic injection may be given
- Using US to guide, a spinal needed is inserted through the abdomen into the uterine wall and into the placenta
- The needle is moved back and forth several times through the placenta
- Suction is used to remove the villi sample
- This method is easiest when the placenta is anterior or away from the cervix
- This method is better for women with a retroverted uterus
- A smaller sample (pieces of villi) is taken as compared to transcervical CVS
- The procedure is usually more uncomfortable than the transcervical method
- Bleeding after the procedure is rare
- CVS takes approximately 5-7 minutes (not including prep time)
- The baby's heartbeat is monitored by US
- The collected sample is examined under the microscope to confirm that fetal tissue and not maternal tissue was collected
- If maternal cells were collected, the CVS will be repeated
- The sample is sent to the lab
- Results are available in approximately 10 days
- What will it feel like?
- There may be some discomfort when the needle enters the skin and the uterus or when the catheter enters the cervix and placenta
- Some say that they feel pressure during the procedure
- You may experience a small amount of bleeding after CVS
- What are the risks?
- The background rate of pregnancy loss at 10-12 weeks is 2-3%
- CVS increases the risk of miscarriage by 1/100 (1%) in women with a normal uterus
- Reinforce that 99% of women will have a healthy baby
- CVS increases the risk of miscarriage by 5/100 (5%) in women with a retroverted uterus using transcervical CVS
- Some studies indicate an increased risk for limb defects when CVS is done before 10 weeks gestation
- When performed at 10-12 weeks, most recent studies do not report an increased risk because limbs have already formed at this point
- The risk is approximately 1/3000 (0.0003%)
- There are special considerations for mothers who are Rh negative. They need to take RhoGam after the CVS procedure
- There is a low risk of uterine infection
- Exercise or strenuous activity is to be avoided for 24 hours after the procedure
- Sexual intercourse, douching, tub baths, or tampon use are to be avoided for 72 hours after CVS procedure
- CVS is not recommended for women with the following:
- Cervical polyps, overly curved sampling pathway, active genital herpes (for trans-cer)
- Interceding bowel, placenta too far from abdomen surface (for trans-abd)
- Active vaginal bleeding or bleeding disorder
- You should notify your doctor if any of the following occur:
- Fever greater than 100.4 F
- Heavy bleeding or cramping
- Amniotic fluid leakage
- Why should I choose CVS?
- CVS can be done earlier than amniocentesis (10-12 weeks versus 15-18 weeks)
- It may reduce a couples emotional stress if at risk for abnormality
- The procedure allows for termination at an earlier age
- This is before the pregnancy is visible
- Also before fetal movement is felt
- Allows for treatment of fetus affected with 21-hydroxylase deficiency
- Why might I not want to choose CVS?
- There is a higher risk for pregnancy loss as compared to amniocentesis
- 1% for CVS versus 0.5% for amnio
- CVS does not detect NTDs
- CVS is less commonly done as compared to amnio
- With CVS, there is a greater likelihood of needing further invasive testing due to:
- Laboratory failure
- Insufficient sample
- Maternal cell contamination
- Seen in approximately 1.9% of cases
- Mosaic or ambiguous results
- There are 2 or more cell types that are different genetically
- Seen in 1-2% of CVS cases
- There is a higher risk for pregnancy loss as compared to amniocentesis
Offer Resources
edit- Literature, contact info, etc.
- March of Dimes website
Elicit final questions and concerns
editReporting of the Results
edit- If they are having the procedure, discuss how they would like to receive the results
- Appointment, phone call, etc.
- Who will contact them?
- Discuss the options: elective abortion, adoption, etc.